Canonical Allele Identifier: CA6748709
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 619167
ClinVar RCV Id: RCV000758135
dbSNP Id: rs749613899

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840499T>C , CM000674.2:g.102840499T>C GRCh38
NC_000012.11:g.103234277T>C , CM000674.1:g.103234277T>C GRCh37
NC_000012.10:g.101758407T>C NCBI36
NG_008690.1:g.82104A>G
NG_008690.2:g.122912A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1216A>G MANE Select ENSP00000448059.1:p.Ile406Val
ENST00000307000.7:c.1201A>G ENSP00000303500.2:p.Ile401Val
ENST00000551114.2:n.878A>G
ENST00000553106.5:c.1216A>G ENSP00000448059.1:p.Ile406Val
ENST00000635477.1:c.320A>G
ENST00000635528.1:n.731A>G
NM_000277.1:c.1216A>G NP_000268.1:p.Ile406Val
XM_011538422.1:c.1159A>G XP_011536724.1:p.Ile387Val
NM_000277.2:c.1216A>G NP_000268.1:p.Ile406Val
NM_001354304.1:c.1216A>G NP_001341233.1:p.Ile406Val
NM_000277.3:c.1216A>G MANE Select NP_000268.1:p.Ile406Val
NM_001354304.2:c.1216A>G NP_001341233.1:p.Ile406Val